ClinVar Miner

Submissions for variant NM_012254.3(SLC27A5):c.2070C>G (p.Leu690=)

gnomAD frequency: 0.00019  dbSNP: rs184994408
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593480 SCV000704367 uncertain significance not provided 2018-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000593480 SCV004310771 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952961 SCV004775626 likely benign SLC27A5-related disorder 2021-07-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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